Authors
Straub V.
Journal
European Journal of Neurology, volume 22, issue Supplement 1, pages 1-20
Publication date
June 2015
Abstract
Neuromuscular diseases (NMD) have a wide phenotypic spectrum, show an enormous genetic heterogeneity, are usually incurable and are associated with a recurrence risk for the families affected. In the past 25 years the strategies and methods applied have allowed us to identify neuromuscular disease genes mainly in larger families and for more frequently occurring genetic conditions. Using cost- and time-intense step-by-step single gene approaches only the most frequent genetic causes and patients with characteristic phenotypes are normally being tested, leaving many patients with very rare and clinically unspecific NMD without a precise diagnosis...
DOI link
10.1111/ene.12804